| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66850897:66850897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2250G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66872091:66872091(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.69delC |
| AA Mutation |
p.Ala24LeufsTer41(p.A24Lfs*41) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PC
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66850712:66850712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2435C>A |
| AA Mutation |
p.Ala812Asp(p.A812D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66850869:66850869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs563526275
|
| CDS Mutation |
c.2278C>T |
| AA Mutation |
p.Arg760Trp(p.R760W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66849829:66849829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2929C>T |
| AA Mutation |
p.Arg977Trp(p.R977W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66852779:66852779(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1571C>A |
| AA Mutation |
p.Pro524His(p.P524H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66849095:66849095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148492494
|
| CDS Mutation |
c.3341C>T |
| AA Mutation |
p.Ala1114Val(p.A1114V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393955 |
| Start |
66853360:66853360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1392T>G |
| AA Mutation |
p.Asn464Lys(p.N464K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|